Article ID Journal Published Year Pages File Type
10834040 Molecular Genetics and Metabolism 2005 8 Pages PDF
Abstract
BH4-responsiveness is shown by a consistent number of PAH-deficient hyperphenylalaninemic patients and seems to be common in milder phenotypes. Genotype is not the only factor determining BH4-responsiveness.
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Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
Preview
Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients
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